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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

Fig. 2

FLCN exon 1 deletion found in patient 22. a Exon 1 deletion was detected by MLPA. The X-axis shows the genomic positions of the probes and the Y-axis represents the signal ratio compared with control. The red arrow represents the heterozygous deletion of exon 1. b Quantitative real-time PCR for FLCN exon 1. Data were normalized with the copy number of a healthy control and experiments were performed in triplicates. c Sanger sequencing revealed a deletion of about 3.6 Kb encompassing FLCN exon 1. The deletion boundaries involved the repeat elements AluSx in intron 1 and AluSq in upstream of FLCN

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